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  Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion

Blagitko, N., Mergenthaler, S., Schulz, U., Wollmann, H. A., Craigen, W., Eggermann, T., et al. (2000). Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion. Hum Mol Genet, 9(11), 1587-95.

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Item Permalink: http://hdl.handle.net/21.11116/0000-0002-E043-5 Version Permalink: http://hdl.handle.net/21.11116/0000-0002-E044-4
Genre: Journal Article

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 Creators:
Blagitko, N.1, Author
Mergenthaler, S.1, Author
Schulz, U.1, Author
Wollmann, H. A.1, Author
Craigen, W.1, Author
Eggermann, T.1, Author
Ropers, H. H.1, Author
Kalscheuer, V. M.1, Author
Affiliations:
1Max Planck Society, ou_persistent13              

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Free keywords: Abnormalities, Multiple/genetics *Alleles Alternative Splicing Base Sequence DNA Methylation DNA, Complementary/chemistry/genetics Female Fetal Growth Retardation/genetics Fetus/metabolism GRB10 Adaptor Protein Gene Expression Regulation Gene Expression Regulation, Developmental *Genomic Imprinting Humans Male Molecular Sequence Data Mutation Protein Isoforms/genetics/metabolism Proteins/*genetics/metabolism Sequence Analysis, DNA Syndrome Tissue Distribution
 Abstract: As part of a systematic screen for novel imprinted genes of human chromosome 7 we have investigated GRB10, which belongs to a small family of adapter proteins, known to interact with a number of receptor tyrosine kinases and signalling molecules. Upon allele-specific transcription analysis involving multiple distinct splice variants in various fetal tissues, we found that human GRB10 is imprinted in a highly isoform- and tissue-specific manner. In fetal brains, most variants are transcribed exclusively from the paternal allele. Imprinted expression in this tissue is not accompanied by allele-specific methylation of the most 5' CpG island. In skeletal muscle, one GRB10 isoform, gamma1, is expressed from the maternal allele alone, whereas in numerous other fetal tissues, all GRB10 splice variants are transcribed from both parental alleles. A remarkable finding is paternal-specific expression of GRB10 in the human fetal brain, since, in the mouse, this gene is transcribed exclusively from the maternal allele. To our knowledge, this is the first example of a gene that is oppositely imprinted in mouse and human.

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 Dates: 2000
 Publication Status: Published in print
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 Rev. Method: -
 Identifiers: Other: 10861285
ISSN: 0964-6906 (Print) 0964-6906 (Linking)
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Title: Hum Mol Genet
  Alternative Title : Human molecular genetics
Source Genre: Journal
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Pages: - Volume / Issue: 9 (11) Sequence Number: - Start / End Page: 1587 - 95 Identifier: -